P11L (p.Pro11Leu) variant of CPT2 (P23786)
P11L (p.Pro11Leu) in CPT2 (P23786) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
P11L (p.Pro11Leu) variant details
- p.Pro11Leu
- TOPMed rs1208897462
- Missense
- Variant Prioritization Score for Impact Estimate 0.279
- REVEL 0.25
- MetaLR 0.35
- MetaSVM -0.65
- CADD 13.90
- PolyPhen-2 0.00
- SIFT 0.44
- Most common in the African/African-American population (allele frequency 3.4e-05)
- Structural context available